Pustaka Ilmiah Universitas Padjadjaran

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Deteksi Mutasi Gen NKX2.5, TBXS, GATA4, dan MYH6 pada Defek Septum Atrium Sekundum Sporadik

Mutasi gen NKX2.5, TBX5, GATA4, dan MYH6 telah ditemukan pada DSA.familial, tetapi sampai saat ini belum ada penelitian tentang mutasi gen GATA4 dan MYH6 pada DSA sporadik. Tujuan penelitian ini untuk mengetahui apakah ada hubungan mutasi gen NKX2.5, TEXI GATA4, dan MYI76 dengan DSA sekundum sporadik. Subjek penelitian ini adalah pasien DSA sekundum dan kontrol adalah pasien tanpa penyakit jantung bawaan yang memenuhi kriteria inklusi. Penelitian merupakan penelitian epidemiologi genetik dengan rancangan kasus kontrol. Untuk menguji hipotesis adanya hubungan mutasi gen NKX2.5, TBX5, GATA4,dan MYH6 dengan DSA sekundum sporadik digunakan perhitungan Rasio Odds. Jumlah sampel dihitung berdasarkan prevalensi. Deteksi mutasi gen NKX2.5, TBX5, GATA4, don MYH6 dilakukan dengan pemeriksaan sekuensing terhadap isolasi DNA. Hasil penelitian menunjukkan tempat mutasi NKX2.5, GATA4, dan MYH6 yang berbeda dengan penelitian terdahulu. Terdapat hubungan mutasi gen NKX2.5, GATA4, dan MYH6 dengan DSA sekundum sporadik {Rasio Odds = 16,01; IK-13,97-18,05. Tidak ditemukan mutasi TBXS. Ditemukan tujuh anak DSA sekundum sporadik dengan mutasi gen NKX2.5, GATA4, dan MYH6 yang terdiri dari satu misense mutation gen NKX2.5, satu frameshif mutation dengan denovo mutation, satu missense mutation gen GATA4, dan empat missense mutations gen MYH6. Kesimpulan tempat mutasi gen NKX2.5, GATA4, dan MYH6 pada penelitian ini berbeda dengan penelitian sebelumnya, terdapat hubungan bermakna mutasi gen NKX2.5, GATA4, dan MYH6 dengan DSA sekundum sporadik Ditemukan satu framehift mutations gen GATA4 yang merupakan de novo mutations.

Mutations of NKX2.5, TBX5, GATA4, and MYH6 gene had been identified in familial ASD, but until recently reports on GATA4 and MYH6 gene mutations in sporadic ASD was still not available. The aim of this study was to determine the association between NKX2.5, TBX5, GATA4, and MYH6 gene mutations and sporadic secundum ASD. The subjects of this study were patients with secundum ASD and the control group were patients without congenital heart disease. A genetic epidemiology study was conducted with case control design to determine the association between NKX2.5, TBX5, GATA4, and MYH6 gene mutations and sporadic secundum ASD. Hypothesis whether there was an association between NKX2.5, TBX5, GATA4, and MYH6 gene mutations and sporadic secundum ASD was tested by Odds Ratio celculation. The sample size was calculated based on prevalence. Sequencing of DNA is isolation was perfermed to detect NKX2.5, TBX5, GATA4, and MYH6 gene mutations. Results of the study revealed locations of NKX2.5, GATA4, and MYH6 gene mutations which differed from previous studies. There was an association between NKY2.5, GATA4, and MYH6 gene mutations and sporadic secundum ASD (Odds Ratio=16.01; CI=13.97-18.05). Mutations of TBX5 gene was not found. Mutations of NKY2.5, GATA4, and MYH6 gene were found in seven children with sporadic secundum ASD, comprised of one NKX2.5 gene misense mutation, one frameshift mutation with de novo mutation, one GATA4 gene missense mutation, and four MYH6 gene missense mutations. As a conclusion, Iocations of NKX2.5, GATA4, and MYH6 gene mutations in this study differfromprevious studies. There was an association between NKX2.5, GATA4, and MYH6 gene mutations and sporadic secundum ASD. One GATA4 gene frameshift mutation was found, which was de novo mutation